PAX6 gene associated with high myopia: a meta-analysis

Area of Science:

• Genetics
• Ophthalmology
• Molecular Biology

Background:

• The PAX6 gene is a key developmental gene implicated in eye development.
• Previous studies on PAX6 gene polymorphisms and high myopia have yielded inconsistent results.
• A comprehensive evaluation is needed to clarify the association between PAX6 and high myopia.

Purpose of the Study:

• To systematically review and meta-analyze existing case-control studies.
• To evaluate the association between PAX6 gene polymorphisms and high myopia.
• To identify specific single-nucleotide polymorphisms (SNPs) potentially linked to high myopia.

Main Methods:

• Systematic literature search of EMBASE and MEDLINE databases.
• Inclusion of case-control association studies on PAX6 and high myopia.
• Meta-analysis of five PAX6 SNPs (rs3026354, rs667773, rs2071754, rs644242, rs3026393) in high myopia and two SNPs (rs667773, rs644242) in extreme myopia.
• Calculation of Odds Ratios (ORs) and 95% Confidence Intervals (CIs).

Main Results:

• Six studies involving 3626 patients and 3262 controls of Asian ancestry met the inclusion criteria.
• The PAX6 SNP rs644242 showed a suggestive association with high myopia (dominant and heterozygous models) and extreme myopia (dominant, allelic, and heterozygous models).
• These associations did not withstand Bonferroni correction, and the other four analyzed SNPs showed no significant association with high myopia.

Conclusions:

• A suggestive association between PAX6 rs644242 and extreme/high myopia was identified, warranting further investigation.
• The PAX6 gene's contribution to myopia development appears to be modest.
• Further studies are needed to validate these findings and fully elucidate the role of PAX6 in myopia.